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ADRB1

Synonyms
ADRB1R, B1AR, BETA1AR, FNSS2, RHR
External resources
Summary
The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Beta-1 adrenoceptors are predominately located in the heart. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
48
Likely pathogenic
0
VUS
292
Likely benign
677
Benign
51

Patient phenotypes

Proportions of phenotypes among 19 patients carring pathogenic or likely pathogenic variants on ADRB1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
21.1%
Abnormality of the ear
15.8%
Abnormality of the musculoskeletal system
15.8%
Abnormality of head or neck
10.5%
Abnormality of the cardiovascular system
10.5%
Abnormality of the genitourinary system
10.5%
Growth abnormality
10.5%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of limbs
5.3%
Abnormality of the immune system
5.3%
Abnormality of the integument
5.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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